Variant report

Variant	rs927704
Chromosome Location	chr14:31752664-31752665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31750344..31752843-chr14:31756445..31759313,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10147938	0.83[EUR][1000 genomes]
rs1041088	0.80[CEU][hapmap];0.86[TSI][hapmap]
rs11626839	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs12892246	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895352	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17577629	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17660955	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146570	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.82[TSI][hapmap]
rs2181420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34159200	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34737578	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34777795	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35330064	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35335466	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35474202	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35628255	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952505	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736917	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41496248	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs4981832	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981841	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995529	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995554	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61996784	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs727671	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs927704	EGLN3	cis	cerebellum	SCAN
rs927704	HEATR5A	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31743600-31753000	Weak transcription	Osteobl	bone
2	chr14:31746600-31755400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
4	chr14:31750600-31753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:31752200-31753800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:31752200-31754000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:31752400-31753000	Enhancers	GM12878-XiMat	blood
8	chr14:31752400-31753000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:31752400-31753200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:31752400-31753800	Enhancers	HepG2	liver
11	chr14:31752400-31754200	Enhancers	HUVEC	blood vessel
12	chr14:31752600-31753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:31752600-31753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:31752600-31753800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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